Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics
In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.
Authors
- Eloisa Arbustini (ORCID: https://orcid.org/0000-0003-2948-7994)
- Perry Elliott (ORCID: https://orcid.org/0000-0003-3383-3984)
- Heribert Schunkert (ORCID: https://orcid.org/0000-0001-6428-3001)
- Elijah R. Behr (ORCID: https://orcid.org/0000-0002-8731-2853)
- Cornelia M. van Duijn (ORCID: https://orcid.org/0000-0002-2374-9204)
- Pim van der Harst (ORCID: https://orcid.org/0000-0002-2713-686X)
- Stefan Kääb (ORCID: https://orcid.org/0000-0001-8824-3581)
- Thomas Thum (ORCID: https://orcid.org/0000-0003-4360-1511)
- Luís R. Lopes (ORCID: https://orcid.org/0000-0002-6408-4667)
- Bart Loeys (ORCID: https://orcid.org/0000-0003-3703-9518)
- Lucie Carrier (ORCID: https://orcid.org/0000-0001-8776-5820)
- Yigal M. Pinto
- Pablo García‐Pavía (ORCID: https://orcid.org/0000-0002-5470-2257)
- Alessandro Di Toro (ORCID: https://orcid.org/0000-0001-7625-1103)
- Maryam Kavousi (ORCID: https://orcid.org/0000-0001-5976-6519)
- Mario Urtis (ORCID: https://orcid.org/0000-0003-3289-9228)
- Antoine Bondue (ORCID: https://orcid.org/0000-0002-4103-515X)
Institutions
- St Bartholomew's Hospital (GB)
- Radboud University Nijmegen (NL)
- University of Antwerp (BE)
- Universität Hamburg (DE)
- St George's, University of London (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Erasmus MC (NL)
- University Medical Center (US)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- LMU Klinikum (DE)
- Medizinische Hochschule Hannover (DE)
- University of Oxford (GB)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Antwerp University Hospital (BE)
- Hospital Universitario Puerta de Hierro Majadahonda (ES)
- University Medical Center Hamburg-Eppendorf (DE)
- Fraunhofer Institute for Toxicology and Experimental Medicine (DE)
- German Centre for Cardiovascular Research (DE)
- Deutsches Herzzentrum München (DE)
- Policlinico San Matteo Fondazione (IT)
- Amsterdam University Medical Centers (NL)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Institute of Experimental Pharmacology and Toxicology of the Slovak Academy of Sciences (SK)
- University College London (GB)
- Technical University of Munich (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- European Heart Journal
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1093/eurheartj/ehae747
- Citations
- 23
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 9.25